{
  "abstract": "Mutations in the mitochondrial DNA polymerase gamma (POLG) gene cause a broad spectrum of neurodegenerative disorders, including the ataxia-neuropathy spectrum (ANS). Substantial phenotypic heterogeneity and overlapping clinical features can delay diagnosis. We report a 38-year-old woman with no significant past medical history who presented with a three-year history of slowly progressive sensory ataxia that worsened in the dark. Examination revealed mild dysarthria, large-fiber sensory loss, and a positive Romberg sign. Extensive metabolic, toxic, autoimmune, and infectious work-up was unrevealing. Nerve conduction studies confirmed a mild peripheral sensory neuropathy. Brain magnetic resonance imaging (MRI) demonstrated distinct bilateral, symmetric T2-weighted and fluid-attenuated inversion recovery (FLAIR) hyperintensities in the dorsomedial thalami and cerebellar white matter. Whole-exome sequencing confirmed a homozygous W748S mutation in the POLG gene, establishing a diagnosis of POLG-related ANS. This imaging pattern, though not specific to POLG-related disease, may support earlier consideration of targeted genetic testing when present alongside a compatible clinical picture.",
  "abstract_shown": true,
  "affiliations": [
    "Medical School, Lincoln Memorial University - DeBusk College of Osteopathic Medicine, Knoxville, USA.",
    "Medical School, Royal College of Surgeons in Ireland - Bahrain, Bahrain, BHR.",
    "Neurology Department, Hamad Medical Corporation, Al-Khor, QAT.",
    "Neurology Department, Hamad Medical Corporation, Doha, QAT."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Abraham Alhatou"
    },
    {
      "affs": [
        1
      ],
      "name": "Omar M Alhatou"
    },
    {
      "affs": [
        2
      ],
      "name": "Mohamed Ghamoodi"
    },
    {
      "affs": [
        3
      ],
      "name": "Mohammed Alhatou"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9wjhqkeesmaga.bib",
  "cited_by": 0,
  "doi": "10.7759/cureus.116575",
  "fulltext_url": "https://europepmc.org/articles/PMC13681239",
  "id": "9wjhqkeesmaga",
  "issns": [
    "2168-8184"
  ],
  "landing_url": "https://europepmc.org/article/MED/42903362",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2804|Hereditary Neurological Disorders"
    ]
  ],
  "openalex": "W7213780373",
  "pdf_url": "https://europepmc.org/articles/PMC13681239?pdf=render",
  "pmcid": "PMC13681239",
  "pmid": "42903362",
  "published": "2026-09-20",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/9wjhqkeesmaga.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:57Z",
      "native_id": "MED:42903362",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42903362"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2804|Hereditary Neurological Disorders",
      "subfield": "neuroscience"
    }
  ],
  "title": "Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation.",
  "title_text": "Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:57Z",
  "url": "https://research.draconitic.com/paper/9wjhqkeesmaga",
  "venue": "Cureus",
  "versions": []
}